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rs1064792861

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50529213
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792861
dbSNP (old)rs1064792861
ClinGenrs1064792861
ebirs1064792861
HLIrs1064792861
Exacrs1064792861
Gnomadrs1064792861
Varsomers1064792861
Maprs1064792861
PheGenIrs1064792861
Biobankrs1064792861
1000 genomesrs1064792861
hgdprs1064792861
ensemblrs1064792861
gopubmedrs1064792861
geneviewrs1064792861
scholarrs1064792861
googlers1064792861
pharmgkbrs1064792861
gwascentralrs1064792861
openSNPrs1064792861
23andMers1064792861
23andMe allrs1064792861
SNPshotrs1064792861
SNPdbers1064792861
MSV3drs1064792861
GWAS Ctlgrs1064792861
Max Magnitude0
ClinVar
Risk rs1064792861(A;A)
Alt rs1064792861(A;A)
Reference Rs1064792861(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50967642C>T
CLNSRC
CLNACC RCV000208638.1,